A short report of two male siblings born with cutis aplasia, lymphedema and intestinal lymphangiectasia, one found to carry bi-allelic variants in the TIE1 gene known to be associated with congenital lymphedema.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1111/cge.14344 | DOI Listing |
Publication Analysis
Top Keywords
congenital lymphedema
8
lymphedema intestinal
8
intestinal lymphangiectasia
8
cutis aplasia
8
biallelic inheritance
4
inheritance tie1
4
tie1 family
4
family congenital
4
lymphangiectasia cutis
4
aplasia short
4
Similar Publications
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!